Research ArticleGENETICS

Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance

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Science Advances  10 Apr 2020:
Vol. 6, no. 15, eaay3511
DOI: 10.1126/sciadv.aay3511

Article Information

vol. 6 no. 15

Online ISSN: 
History: 
  • Received for publication June 11, 2019
  • Accepted for publication January 16, 2020
  • .

Author Information

  1. Eléonore Toufektchan1,2,3,4,*,
  2. Vincent Lejour1,2,3,4,*,
  3. Romane Durand1,2,3,4,*,
  4. Neelam Giri5,
  5. Irena Draskovic2,3,4,6,
  6. Boris Bardot1,2,3,4,
  7. Pierre Laplante1,2,3,4,
  8. Sara Jaber1,2,3,4,
  9. Blanche P. Alter5,
  10. José-Arturo Londono-Vallejo2,3,4,6,
  11. Sharon A. Savage5 and
  12. Franck Toledo1,2,3,4,
  1. 1Genetics of Tumor Suppression, Institut Curie, Paris, France.
  2. 2CNRS UMR 3244, Paris, France.
  3. 3Sorbonne Université, Paris, France.
  4. 4PSL Research University, Paris, France.
  5. 5Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
  6. 6Telomeres and Cancer, Institut Curie, Paris, France.
  1. Corresponding author. Email: franck.toledo{at}curie.fr
  • * These authors contributed equally to this work.

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